Familial hypercholesterolemia (FH) is a genetic disorder with an increased risk of early-onset coronary artery disease. Although some clinically diagnosed FH cases are caused by mutations in LDLR, APOB, or PCSK9, mutation detection rates and profiles can vary across ethnic groups. In this study, we aimed to provide insight into the spectrum of FH-causing mutations in Koreans. Among 136 patients referred for FH, 69 who met Simon Broome criteria with definite family history were enrolled. By whole-exome sequencing (WES) analysis, we confirmed that the 3 known FH-related genes accounted for genetic causes in 23 patients (33.3%). A substantial portion of the mutations (19 of 23 patients, 82.6%) resulted from 17 mutations and 2 copy number deletions in LDLR gene. Two mutations each in the APOB and PCSK9 genes were verified. Of these anomalies, two frameshift deletions in LDLR and one mutation in PCSK9 were identified as novel causative mutations. In particular, one novel mutation and copy number deletion were validated by co-segregation in their relatives. This study confirmed the utility of genetic diagnosis of FH through WES.

Si3N4 film could be selectively removed by a special H3PO4-free etchant. In order to increase Si3N4 etching rate and Si3N4/SiO2 etch selectivity, various additives were added to H3PO4-free etchant. The optimization of additives into H3PO4-free solution, a comparable Si3N4 etching rate with 50 times increased Si3N4/SiO2 etch selectivity was obtained as compared to the conventional H3PO4 process.

This study investigated the etching kinetics of Si3N4 in various concentration of H3PO4 solution and the effect of Si3N4 etching enhancers on the etching process, particularly for 3D NAND trench structures. 30 wt% H3PO4 was used to etch Si3N4, which can produce higher Si3N4/SiO2 etching selectivity and similar Si3N4 etching rate compared to a conventional 85 wt% H3PO4. 30 wt% H3PO4 showed significantly improved etching performance for the Si3N4/SiO2 3D NAND structure as compared to 85 wt% H3PO4. In particular, the transportation ability of H3PO4 into 3D NAND trench structures can be improved by reducing viscosity of etchant, which can be obtained by reducing the concentration of H3PO4. In addition, Si3N4 etching enhancers were introduced to accelerate the Si3N4 etching kinetics in 30 wt% H3PO4. Addition of such additives improved the Si3N4 etching rate and Si3N4/SiO2 etching selectivity while suppressing oxide regrowth. The results provide valuable insights for optimizing selective Si3N4 etching process in 3D NAND structures.